C15orf48 (chromosome 15 open reading frame 48)

2003-10-01  

Identity

HGNC
C15orf48
LOCATION
15q21.1
LOCUSID
84419
ALIAS
COXFA4L3,FOAP-11,MIR147BHG,MISTRAV,MOCCI,NMES1

Other Information

Locus ID:

NCBI: 84419
MIM: 608409
HGNC: 29898
Ensembl: ENSG00000166920

Variants:

dbSNP: 84419
ClinVar: 84419
TCGA: ENSG00000166920
COSMIC: C15orf48

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166920ENST00000344300Q9C002
ENSG00000166920ENST00000344300A0A024R5U4
ENSG00000166920ENST00000396650Q9C002
ENSG00000166920ENST00000396650A0A024R5U4
ENSG00000166920ENST00000558435H0YKW5

Expression (GTEx)

0
50
100
150
200
250
300
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
122099542002A novel gene, NMES1, downregulated in human esophageal squamous cell carcinoma.8

Citation

Dessen P

C15orf48 (chromosome 15 open reading frame 48)

Atlas Genet Cytogenet Oncol Haematol. 2003-10-01

Online version: http://atlasgeneticsoncology.org/gene/41548/c15orf48